title: Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.
abstract: The slow α-tropomyosin gene (TPM3) has been associated with three distinct histological entities: nemaline myopathy (NM, NEM1), congenital fibre-type disproportion (CFTD), and cap disease (CD). Here we describe a patient presenting an early-onset congenital myopathy associated with a combination of well separated cap structures and nemaline bodies in his muscle biopsy. Exome sequencing analysis allowed us to identify a de novo missense mutation in the TPM3 gene. Our study confirms the extreme variability of morphological findings in TPM3-related myopathies, and proves that cap and nemaline bodies are two sides of the same 'coin'.
authors.affiliation: Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences, University of Siena, Siena, Italy; Inserm, U974, Paris F-75013, France; Université Pierre et Marie Curie-Paris 6, UM 76, CNRS, UMR 7215, Institut de Myologie, IFR14, Paris F-75013, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Malfatti
authors.forename: Ursula
authors.initials: U
authors.lastname: Schaeffer
authors.forename: Françoise
authors.initials: F
authors.lastname: Chapon
authors.forename: Yage
authors.initials: Y
authors.lastname: Yang
authors.forename: Bruno
authors.initials: B
authors.lastname: Eymard
authors.forename: Ran
authors.initials: R
authors.lastname: Xu
authors.forename: Jocelyn
authors.initials: J
authors.lastname: Laporte
authors.forename: Norma B
authors.initials: NB
authors.lastname: Romero
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D046529:Microscopy, Electron, Transmission; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics*; D017696:Myopathies, Nemaline / Q000150:complications / Q000235:genetics* / Q000473:pathology; D020914:Myopathies, Structural, Congenital / Q000150:complications / Q000235:genetics / Q000473:pathology; D014335:Tropomyosin / Q000235:genetics*
chemical_list: C498783:TPM3 protein, human; D014335:Tropomyosin
keywords: Cap disease; Congenital structural myopathies; Exome sequencing; Nemaline myopathies